Incidental Mutation 'R8294:Rph3a'
| ID |
638844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rph3a
|
| Ensembl Gene |
ENSMUSG00000029608 |
| Gene Name |
rabphilin 3A |
| Synonyms |
Doc2 family, 2900002P20Rik |
| MMRRC Submission |
067784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121078562-121148155 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121099429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 154
(F154S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079204]
[ENSMUST00000202326]
[ENSMUST00000202406]
|
| AlphaFold |
P47708 |
| PDB Structure |
Structural determinants for Ca2+ and PIP2 binding by the C2A domain of rabphilin-3A [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079204
AA Change: F154S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078198
Gene: ENSMUSG00000029608
AA Change: F154S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
|
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
|
C2
|
395 |
500 |
2.93e-22 |
SMART |
|
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202326
AA Change: F154S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144291
Gene: ENSMUSG00000029608
AA Change: F154S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
|
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
|
C2
|
395 |
500 |
2.93e-22 |
SMART |
|
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202406
AA Change: F154S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143917
Gene: ENSMUSG00000029608
AA Change: F154S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
44 |
158 |
1e-38 |
PFAM |
|
low complexity region
|
271 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
377 |
N/A |
INTRINSIC |
|
C2
|
395 |
500 |
2.93e-22 |
SMART |
|
C2
|
553 |
667 |
1.85e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous mutants are viable and fertile and do not exhibit any obvious abnormal phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,897,217 (GRCm39) |
V632A |
possibly damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,175,243 (GRCm39) |
I79V |
probably benign |
Het |
| Arid3a |
A |
T |
10: 79,786,535 (GRCm39) |
|
silent |
Het |
| Cecr2 |
C |
T |
6: 120,710,747 (GRCm39) |
A154V |
probably damaging |
Het |
| Cog3 |
A |
C |
14: 75,954,619 (GRCm39) |
L650R |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,594 (GRCm39) |
F610I |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,186,844 (GRCm39) |
D1215G |
probably null |
Het |
| Ctsh |
C |
G |
9: 89,950,489 (GRCm39) |
A219G |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,859,410 (GRCm39) |
L2126F |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,488,079 (GRCm39) |
V2028A |
possibly damaging |
Het |
| Ece1 |
T |
C |
4: 137,675,931 (GRCm39) |
V435A |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| H4c1 |
A |
G |
13: 23,944,957 (GRCm39) |
F62L |
probably damaging |
Het |
| Hk1 |
T |
G |
10: 62,131,624 (GRCm39) |
I245L |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,378 (GRCm39) |
K104Q |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,853,954 (GRCm39) |
I2017V |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,603,915 (GRCm39) |
A244V |
probably damaging |
Het |
| Krt72 |
A |
T |
15: 101,694,472 (GRCm39) |
L141Q |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,537,500 (GRCm39) |
A6S |
unknown |
Het |
| Muc6 |
T |
C |
7: 141,217,263 (GRCm39) |
Y2470C |
possibly damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,418 (GRCm39) |
V713A |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,010 (GRCm39) |
D273G |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,753,083 (GRCm39) |
T141A |
possibly damaging |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,044,487 (GRCm39) |
Y73C |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,300 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,674,694 (GRCm39) |
L74P |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,806,484 (GRCm39) |
L577H |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,416,220 (GRCm39) |
S1631P |
probably benign |
Het |
| S1pr5 |
A |
G |
9: 21,156,300 (GRCm39) |
V42A |
possibly damaging |
Het |
| Scaper |
G |
A |
9: 55,517,280 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Slc44a2 |
G |
T |
9: 21,259,643 (GRCm39) |
V597F |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,467 (GRCm39) |
S116T |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,345,027 (GRCm39) |
D1004G |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,074,816 (GRCm39) |
D25E |
|
Het |
| Syt17 |
A |
T |
7: 118,009,228 (GRCm39) |
Y327N |
probably damaging |
Het |
| T |
T |
A |
17: 8,653,364 (GRCm39) |
M1K |
probably null |
Het |
| Tmem201 |
A |
T |
4: 149,815,554 (GRCm39) |
I132N |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,868,176 (GRCm39) |
C211S |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,331,588 (GRCm39) |
D7G |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,811,160 (GRCm39) |
K1863N |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,978 (GRCm39) |
S104T |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,229,689 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Rph3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02281:Rph3a
|
APN |
5 |
121,086,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Rph3a
|
APN |
5 |
121,102,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02394:Rph3a
|
APN |
5 |
121,084,411 (GRCm39) |
splice site |
probably null |
|
|
IGL02429:Rph3a
|
APN |
5 |
121,118,187 (GRCm39) |
splice site |
probably null |
|
|
IGL02825:Rph3a
|
APN |
5 |
121,083,509 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0282:Rph3a
|
UTSW |
5 |
121,101,973 (GRCm39) |
nonsense |
probably null |
|
|
R0325:Rph3a
|
UTSW |
5 |
121,081,127 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0402:Rph3a
|
UTSW |
5 |
121,080,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0648:Rph3a
|
UTSW |
5 |
121,097,333 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1807:Rph3a
|
UTSW |
5 |
121,083,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2273:Rph3a
|
UTSW |
5 |
121,111,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2519:Rph3a
|
UTSW |
5 |
121,092,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2865:Rph3a
|
UTSW |
5 |
121,085,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Rph3a
|
UTSW |
5 |
121,118,212 (GRCm39) |
splice site |
probably benign |
|
|
R3153:Rph3a
|
UTSW |
5 |
121,111,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Rph3a
|
UTSW |
5 |
121,111,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Rph3a
|
UTSW |
5 |
121,092,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4949:Rph3a
|
UTSW |
5 |
121,101,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Rph3a
|
UTSW |
5 |
121,101,906 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5008:Rph3a
|
UTSW |
5 |
121,083,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Rph3a
|
UTSW |
5 |
121,092,512 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5155:Rph3a
|
UTSW |
5 |
121,086,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5497:Rph3a
|
UTSW |
5 |
121,080,253 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5931:Rph3a
|
UTSW |
5 |
121,101,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6273:Rph3a
|
UTSW |
5 |
121,083,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7630:Rph3a
|
UTSW |
5 |
121,081,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Rph3a
|
UTSW |
5 |
121,099,339 (GRCm39) |
missense |
probably benign |
|
|
R8210:Rph3a
|
UTSW |
5 |
121,099,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8445:Rph3a
|
UTSW |
5 |
121,111,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Rph3a
|
UTSW |
5 |
121,100,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8758:Rph3a
|
UTSW |
5 |
121,097,365 (GRCm39) |
missense |
probably benign |
|
|
R9147:Rph3a
|
UTSW |
5 |
121,086,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9148:Rph3a
|
UTSW |
5 |
121,086,880 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9157:Rph3a
|
UTSW |
5 |
121,101,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Rph3a
|
UTSW |
5 |
121,086,005 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9520:Rph3a
|
UTSW |
5 |
121,101,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Rph3a
|
UTSW |
5 |
121,100,521 (GRCm39) |
missense |
probably benign |
0.08 |
|
RF017:Rph3a
|
UTSW |
5 |
121,100,562 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Rph3a
|
UTSW |
5 |
121,099,338 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Rph3a
|
UTSW |
5 |
121,080,329 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAGTTGGCTTGTACCTG -3'
(R):5'- GGGTTGATCCTTGACATGGTAAAG -3'
Sequencing Primer
(F):5'- CTGTCCAGGGTGCTGAAAG -3'
(R):5'- GATCCTTGACATGGTAAAGAATCAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation